KEL - Kell metallo-endopeptidase (Kell blood group) Gene

Also Known as ECE3; Kell; CD238

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3792

About KEL

Cytogenetic location: 7q34 Genomic coordinates (GRCh38): 7:142,941,114-142,962,363 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 143 orthologues, 6 paralogues and is associated with 1 phenotype. Biased expression in testis (RPKM 20.5), bone marrow (RPKM 20.3) and 2 other tissues.

Summary

This gene encodes a type II Transmembrane Glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the Neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008]

KEL Products (1)

mRNA Protein Name
NM_000420.3 NP_000411.1 kell blood group glycoprotein
Molecular Function GO Annotation Evidence References Source
enables metalloendopeptidase activity IDA
IDA: Inferred from direct assay
15769748 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
7737196 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KEL Protein Structure

Peptidase_M13_N

Peptidase_M13_N: Peptidase family M13 (100 - 480)

Peptidase_M13

Peptidase_M13: Peptidase family M13 (540 - 730)

  • 0
  • 200
  • 400
  • 600
  • 732 a.a.
Protein Preferred Names Protein Names

kell blood group glycoprotein

  • Kell blood group, metallo-endopeptidase

KEL Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KEL P23276 TTMP Homo sapiens Q5BVD1 32296183
Intra
KEL P23276 ADIPOQ Homo sapiens Q15848 32296183
Intra
KEL P23276 PM20D2 Homo sapiens Q8IYS1 32296183
Intra
KEL P23276 PM20D2 Homo sapiens Q8IYS1 32296183
Intra
KEL P23276 PM20D2 Homo sapiens Q8IYS1 32296183
Intra
KEL P23276 CLDN19 Homo sapiens Q8N6F1-2 32296183
Intra
KEL P23276 TGFBR2 Homo sapiens P37173 32814053
Intra
KEL P23276 TGFBR2 Homo sapiens P37173 32814053
Intra
KEL P23276 TGFBR2 Homo sapiens P37173 32814053
Intra
KEL P23276 SERPINH1 Homo sapiens P50454 32814053
Intra
KEL P23276 SERPINH1 Homo sapiens P50454 32814053
Intra
KEL P23276 SERPINH1 Homo sapiens P50454 32814053
Intra
KEL P23276 PRKACA Homo sapiens P17612 32814053
Intra
KEL P23276 PRKACA Homo sapiens P17612 32814053
Intra
KEL P23276 PRKACA Homo sapiens P17612 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant KEL Proteins

Cat. No. Product Name Accession Purity
HY-P70324 KEL/Kelch-like protein 41 Protein, Human (HEK293, His, solution) P23276 (N68-W732) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P70324A KEL/Kelch-like protein 41 Protein, Human (HEK293, C-His) P23276 (N68-W732) ≥ 95%, as determined by reducing SDS-PAGE.

KEL Antibodies

Cat. No. Product Name Application Reactivity
HY-P811219 CD238 Antibody WB, IHC-P Human, Mouse

Related Diseases

Diseases Alias
Blood Group--Kell System
  • KEL

  • Blood Group--Kell-Cellano System

  • Blood Group, Kell

  • Kell Blood Group System

  • Kell Blood Group

  • Blood Group System, Kell

Mcleod Syndrome
  • Mcleod Neuroacanthocytosis Syndrome

  • MLS

  • X-Linked Mcleod Syndrome

  • Mcleod Phenotype

  • Neuroacanthocytosis, Mcleod Type

  • Mcleod Syndrome With Or Without Chronic Granulomatous Disease

  • MCLDS

  • Mcleod Type Neuroacanthocytosis

  • Mcleod Syndrome With Chronic Granulomatous Disease

  • Neuroacanthocytosis Mcleod Type

  • Blood Group Deletion Syndrome

Neuroacanthocytosis
  • Neuroacanthocytosis Syndrome

Chronic Granulomatous Disease
  • Cgd

  • Granulomatous Disease, Chronic

  • Autosomal Recessive Chronic Granulomatous Disease

  • X-Linked Chronic Granulomatous Disease

  • Bridges-Good Syndrome

  • Congenital Dysphagocytosis

  • Quie Syndrome

  • Chronic Septic Granulomatosis

  • Chronic Granulomatous Disorder

  • Granulomatous Disease Chronic

  • Granulomatous Disease, Chronic, X-Linked

Blood Group Incompatibility
Fetal Erythroblastosis
  • Erythroblastosis, Fetal

  • Ef - Erythroblastosis Foetalis

  • Erythroblastosis Fetalis

  • Haemolytic Disease Due To Rhesus Isoimmunisation

  • Rhesus Isoimmunisation Of The Newborn

Neonatal Anemia
  • Anemia Neonatal

  • Anemia, Neonatal

  • Anaemia Neonatal

  • Neonatal Anaemia

Choreoacanthocytosis
  • Chorea-Acanthocytosis

  • CHAC

  • Acanthocytosis With Neurologic Disorder

  • Levine-Critchley Syndrome

  • Choreaacanthocytosis

  • Chorea Acanthocytosis

  • Neuroacanthocytosis

  • Levine-Critchley Syndrome, Formerly

  • Neuroacanthocytosis, Formerly

  • Choreo-Acanthocytosis

  • Acanthocytosis Chorea

  • Chorea Acanthocytosis Syndrome

Granulomatous Disease, Chronic, X-Linked
  • CGDX

  • Chronic Granulomatous Disease, X-Linked

  • X-Linked Chronic Granulomatous Disease

  • Cgd

  • Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked

  • Cdgx

  • X-Linked Chronic Cytochrome B-Negative Granulomatous Disease

  • Chronic Granulomatous Disease Cytochrome B-Negative X-Linked

  • Chronic Granulomatous Disease Cytochrome B-Positive X-Linked

  • Granulomatous Disease, Chronic, X-Linked, Variant

Lingual-Facial-Buccal Dyskinesia
  • Orofacial Dyskinesia

  • Oro-Facial Dyskinesia

  • Dyskinesias

Beta-Thalassemia Major
  • Cooley'S Anemia

  • Cooley Anemia

  • Mediterranean Anemia

Hemoglobinopathy
  • Hemoglobinopathies

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus KEL RGD RGD:1565470
Canis familiaris KEL VGNC VGNC:42333
Bos taurus KEL VGNC VGNC:30538
Macaca mulatta KEL VGNC VGNC:81628
Mus musculus KEL MGD MGI:1346053
Felis catus KEL VGNC VGNC:80604
Others KEL NCBI